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FLASH GENE

Symbol

PITX2

contributors: shn/npt/pgu/shn - updated : 18-01-2017

HGNC name	paired-like homeodomain 2
HGNC id	9005

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

RIEG1 , IHG2 , RGDC

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         duplication of PITX2 is causal of iris hypoplasia constitutional germinal mutation     loss of function with increased susceptibility to tetralogy of Fallot (TOF) constitutional germinal mutation       induces cerebral small-vessel disease constitutional germinal mutation     loss of function association between PITX2c loss-of-function mutations and the transposition of the great arteries and ventricular septal defect

Susceptibility

to atrial arrhythmias (see ATFB5) to atrial fibrillation (AF) to tetralogy of Fallot (TOF)

Variant & Polymorphism other	has multiple targets that are relevant to the predisposition to atrial arrhythmia
	enhancer regulating PITX2c expression, and activity of this enhancer is modulated by SNP rs2595104, which almost completely abolished binding of TFAP2A, leading to decreased PITX2c expression and potentially a higher risk of AF

Candidate gene
Marker	PITX2 methylation is useful as a biomarker of poor outcome of prostate cancer
Therapy target
	System Type Disorder Pubmed cardiovascular rythm   . PITX2 and ion channels regulating the resting membrane potential may provide novel targets for antiarrhythmic drug development and companion therapeutics in AF

ANIMAL & CELL MODELS

	Pitx2 gene-deleted mice display defective body-wall closure, right pulmonary isomerism, altered cardiac position, arrest in turning and a block in the determination and proliferation events of anterior pituitary gland and tooth organogenesis (
	Pitx2-/- mice embryos had correctly oriented, but arrested, embryonic rotation and right pulmonary isomerism, defective development of the mandibular and maxillary facial prominences, regression of the stomodeum and arrested tooth development (
	Complete Pitx2 loss of function in mice results in agenesis or severe disruption of periocular mesenchyme structures and extrinsic defects in early optic nerve development (
	neural crest-specific Pitx2 knockout mice are viable and exhibit an optic nerve phenotype in which the eyes are progressively displaced towards the midline until they are directly attached to the ventral hypothalamus (
	ablation of unilateral Pitx2 expression in mice impairs asymmetric remodelling of the branchial arch artery system, resulting in randomized laterality of the aortic arch
	Pitx2c-deficient mice do not develop a pulmonary myocardial sleeve because they fail to form the initial pulmonary myocardial cells